Article
Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation.
Clinical genetics - 1 Dec 2014
Bashyam M D, Chaudhary A K, Kiran M, Reddy V, Nagarajaram H A, Dalal A, Bashyam L, Suri D, Gupta A, Gupta N, Kabra M, Puri R D, RamaDevi R, Kapoor S, Danda S
Abstract excerpt
Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In the largest ever study, we identified and characterized ASAH1 mutations from 11 independent Farber disease (FD) families. A total of 13 different mutations were identified including 1 splice, 1 polypyrimidine tract (PPT) deletion and 11 missense mutations. Eleven mutations were exclusive to...
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